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J Med Genet 52(3):186194 Alfadhel M, Nashabat M, Alrifai MT, Alshaalan H, Al Mutairi F, Al-Shahrani SA, Plecko B, Almass R, Alsagob M, Almutairi FB, Al-Rumayyan A, Al-Twaijri W, Al-Owain M, Taylor RW, Kaya N (2017) Further delineation of the phenotypic spectrum of ISCA2 defect: a report of ten new cases

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